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Chaima A Sahli,
Amina Bibi,
Faida Ouali,
Sondess Hadj Fredj,
Boutheina Dakhlaoui,
Rym Othmani,
Naouel Laaouini, Latifa Jouini,
Fekria Ouenniche,
Hajer Siala,
Imed Touhami,
Mariem Becher,
Slaheddine Fattoum,
Nour El Houda Toumi,
Taieb Messaoud
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ABSTRACT: Abstract Background: In Tunisia, thalassemia and sickle cell disease (SS) represent the most prevalent monogenic hemoglobin disorders with 2.21% and 1.89% of carriers, respectively. This study aims to evaluate the diagnosis reliability of 12 red blood cell (RBC) indices in differentiation of β-thalassemia trait (β-TT) from iron deficiency anemia (IDA) and between homozygous SS and sickle cell thalassemia (ST). Methods: The study covered 384 patients divided into three groups. The first one is composed of 145 control group, the second consists of 57 β-TT and 52 IDA subjects and the last one with 88 SS and 42 ST patients. We calculated sensitivity, specificity, positive-predictive values, negative-predictive values, percentage of correctly identified patients and Youden's Index (YI) for each indice. We also established new cut-off values by receiver operating characteristic curves for each indice. An evaluation study was performed on another population composed of 106 β-TT, 125 IDA, 31 SS, and 17 ST patients. Results: Srivastava Index (SI) shows the highest reliability in discriminating β-TT from IDA at 5.17 as a cut-off and also SS from ST with 7.7 as another threshold. Mentzer Index (MI) and RBC appear also useful in both groups with new cut-offs slightly different from those described in literature for β-TT and IDA. Conclusions: The effectiveness and the simplicity of calculation of these indices make them acceptable and easy to use. They can be relied on for differential diagnosis and even for diagnosis of β-TT with atypical HbA2 levels.
Clinical Chemistry and Laboratory Medicine 03/2013; · 2.15 Impact Factor
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Chaima A. Sahli,
Amina Bibi,
F aida Ouali,
Sondess Hadj Fredj,
Boutheina Dakhlaoui,
Rym Othmani,
Naouel Laaouini, Latifa Jouini,
Fekria Ouenniche,
Hajer Siala,
Imed Touhami,
Mariem Becher,
Slaheddine Fattoum,
N our El Houda Toumi,
Taieb Messaoud
[show abstract]
[hide abstract]
ABSTRACT: Abstract Background: In Tunisia, thalassemia and sickle cell disease (SS) represent the most prevalent monogenic hemoglobin disorders with 2.21% and 1.89% of carriers, respectively. This study aims to evaluate the diagnosis reliability of 12 red blood cell (RBC) indices in differentiation of β-thalassemia trait (β-TT) from iron deficiency anemia (IDA) and between homozygous SS and sickle cell thalassemia (ST). Methods: The study covered 384 patients divided into three groups. The first one is composed of 145 control group, the second consists of 57 β-TT and 52 IDA subjects and the last one with 88 SS and 42 ST patients. We calculated sensitivity, specificity, positive-predictive values, negative-predictive values, percentage of correctly identified patients and Youden's Index (YI) for each indice. We also established new cut-off values by receiver operating characteristic curves for each indice. An evaluation study was performed on another population composed of 106 β-TT, 125 IDA, 31 SS, and 17 ST patients. Results: Srivastava Index (SI) shows the highest reliability in discriminating β-TT from IDA at 5.17 as a cut-off and also SS from ST with 7.7 as another threshold. Mentzer Index (MI) and RBC appear also useful in both groups with new cut-offs slightly different from those described in literature for β-TT and IDA. Conclusions: The effectiveness and the simplicity of calculation of these indices make them acceptable and easy to use. They can be relied on for differential diagnosis and even for diagnosis of β-TT with atypical HbA2 levels.
Clin Chem Lab Med. 03/2013; 13:1-9..
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Amina Bibi, Latifa Jouini,
Chaima Abdelhafidh Sahli,
Sondess Hadj Fredj,
Kamel Abidi,
Lamia Gharsallah,
Sondess Mathlouthi,
Faida Ouali,
Hajer Siala,
Raja Belhaj,
Azza Sammoud,
Taieb Messaoud
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ABSTRACT: Analbuminemia is a very rare autosomal recessive disorder. It is an allelic heterogeneous defect caused by a variety of mutations within the albumin gene. We describe in this report two new cases of analbuminemia in Libyans.
The 14 coding exons of the human serum albumin (HSA) gene and their intron-exon junctions were PCR amplified. The products were screened for mutations by Denaturing High Performance Liquid Chromatography (DHPLC). Samples with altered DHPLC profiles were sequenced.
DNA sequencing revealed the presence of a novol homozygous G➔T transition in the first base of intron 11 (c.1428+1G>T), in both children. This mutation destroys the GT consensus donor sequence found at the 5' end of most intervening sequences and would cause the defective pre-mRNA splicing.
Molecular diagnosis based on DHPLC and DNA sequencing represents a powerful tool to study molecular defects causing analbuminemia.
Clinical biochemistry 05/2012; 45(15):1183-6. · 2.02 Impact Factor
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ABSTRACT: Hereditary persistence of fetal hemoglobin (HPFH) is a group of genetically heterogeneous conditions characterized by continued expression of fetal hemoglobin (HbF) in adulthood. HPFH may be due not only to point mutations or large deletions in different regions of the cluster β globin, but also to variations in several polymorphic sequences in this cluster. The objective of this work was to evaluate effects of polymorphic markers within cluster β globin on HbF expression. For the purpose, we have explored in this first study of Tunisian HPFH four polymorphic regions of β globin cluster in 68 healthy adults (34 subjects with high levels of HbF and 34 with normal HbF levels). Our results showed that the increase of HbF levels is associated with the -158 Gγ C → T polymorphism, the TG(18)CG(2)CACG, TC TG(9)AG TG(2)CG(2) and TG(11)CG(4) configurations in the second intron of Gγ gene and the -540 β (AT)(6)T(9) and (AT)(7)T(8) repeated sequences. Among the 34 subjects with raised levels of HbF, approximately 97% carried one or more of these six markers. This study suggests that there is a significant association between certain polymorphic configurations of the β globin cluster and the increase of HbF levels in healthy individuals.
Molecular Biology Reports 09/2011; 39(4):4619-25. · 2.93 Impact Factor
